Canonical Allele Identifier: CA2575882919
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1951774
ClinVar RCV Id: RCV002686405
gnomAD v4: 16-2317779-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2317779C>T , CM000678.2:g.2317779C>T GRCh38
NC_000016.9:g.2367780C>T , CM000678.1:g.2367780C>T GRCh37
NC_000016.8:g.2307781C>T NCBI36
NG_011790.1:g.27968G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.874-15G>A MANE Select ENSP00000301732.5:n.874-15G>A
ENST00000301732.9:c.874-15G>A ENSP00000301732.5:n.874-15G>A
ENST00000382381.7:c.874-15G>A ENSP00000371818.3:n.874-15G>A
ENST00000563623.5:n.1437-15G>A
NM_001089.2:c.874-15G>A NP_001080.2:n.874-15G>A
NM_001089.3:c.874-15G>A MANE Select NP_001080.2:n.874-15G>A
Search 100 bp 5'
Search 100 bp 3'